Variant report

Variant	rs74024782
Chromosome Location	chr16:75467359-75467360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75466879-75468736	GM12878	blood:	n/a	n/a
2	JUND	chr16:75466585-75468245	K562	blood:	n/a	n/a
3	EP300	chr16:75466793-75468266	K562	blood:	n/a	chr16:75467418-75467425 chr16:75467337-75467346 chr16:75466958-75466967 chr16:75466949-75466965
4	CTCF	chr16:75467220-75467370	HCPEpiC	choroid plexus:	n/a	n/a
5	TAF1	chr16:75467160-75467452	K562	blood:	n/a	n/a
6	THAP1	chr16:75467293-75467516	K562	blood:	n/a	n/a
7	POLR2A	chr16:75467058-75467529	HUVEC	blood vessel:	n/a	n/a
8	TFAP2C	chr16:75466593-75467964	Hela-S3	cervix:	n/a	chr16:75467417-75467426 chr16:75467161-75467176
9	MAX	chr16:75466492-75468630	ECC-1	luminal epithelium:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
10	GABPA	chr16:75467314-75467521	GM12878	blood:	n/a	chr16:75467381-75467390 chr16:75467379-75467393 chr16:75467379-75467390
11	MYBL2	chr16:75466443-75468470	HepG2	liver:	n/a	n/a
12	USF1	chr16:75466755-75467425	SK-N-SH	brain:	n/a	chr16:75467128-75467141 chr16:75466961-75466977 chr16:75467016-75467032
13	TBL1XR1	chr16:75466865-75468217	GM12878	blood:	n/a	n/a
14	MAX	chr16:75466663-75467664	SK-N-SH	brain:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
15	YY1	chr16:75467136-75468236	H1-hESC	embryonic stem cell:	n/a	chr16:75467351-75467365 chr16:75467338-75467347 chr16:75467338-75467352
16	MAX	chr16:75466442-75468909	A549	lung:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
17	SIN3AK20	chr16:75466614-75467479	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr16:75466542-75468796	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr16:75466835-75468089	K562	blood:	n/a	chr16:75467490-75467508 chr16:75467485-75467504
20	JUND	chr16:75466764-75467534	H1-hESC	embryonic stem cell:	n/a	n/a
21	E2F6	chr16:75466652-75467499	Hela-S3	cervix:	n/a	chr16:75466959-75466969 chr16:75467336-75467346 chr16:75466939-75466950 chr16:75467380-75467389
22	REST	chr16:75466752-75467431	HepG2	liver:	n/a	chr16:75467370-75467377 chr16:75466778-75466787
23	CTCF	chr16:75467307-75467534	GM12878	blood:	n/a	n/a
24	PML	chr16:75466839-75468280	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:75466788-75467614	H1-neurons	neurons:	n/a	n/a
26	TAF1	chr16:75466792-75468278	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr16:75466775-75468198	MCF10A-Er-Src	breast:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
28	MYBL2	chr16:75466698-75468812	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:75466710-75467504	H1-hESC	embryonic stem cell:	n/a	n/a
30	RCOR1	chr16:75466761-75468830	K562	blood:	n/a	n/a
31	POLR2A	chr16:75467046-75467499	GM12892	blood:	n/a	n/a
32	MYC	chr16:75467330-75467600	MCF10A-Er-Src	breast:	n/a	n/a
33	GABPA	chr16:75467020-75468142	A549	lung:	n/a	chr16:75467381-75467390 chr16:75467379-75467393 chr16:75467379-75467390
34	BRCA1	chr16:75466882-75468256	HepG2	liver:	n/a	n/a
35	TCF12	chr16:75466804-75468002	ECC-1	luminal epithelium:	n/a	n/a
36	MYC	chr16:75466846-75467363	K562	blood:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
37	SIN3AK20	chr16:75466730-75467377	A549	lung:	n/a	n/a
38	JUND	chr16:75466868-75467542	A549	lung:	n/a	n/a
39	MAX	chr16:75466743-75468134	Hela-S3	cervix:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
40	MAX	chr16:75466755-75467641	H1-hESC	embryonic stem cell:	n/a	chr16:75466930-75466940 chr16:75467139-75467148 chr16:75467130-75467139
41	SIN3A	chr16:75466632-75468198	GM12878	blood:	n/a	chr16:75467116-75467127
42	YY1	chr16:75467136-75468197	HepG2	liver:	n/a	chr16:75467351-75467365 chr16:75467338-75467347 chr16:75467338-75467352
43	POLR2A	chr16:75467088-75467512	HepG2	liver:	n/a	n/a
44	YY1	chr16:75467172-75467541	K562	blood:	n/a	chr16:75467351-75467365 chr16:75467338-75467347 chr16:75467338-75467352
45	ELK1	chr16:75466938-75468393	K562	blood:	n/a	chr16:75467417-75467426 chr16:75467417-75467426
46	RELA	chr16:75466949-75468201	GM15510	blood:	n/a	n/a
47	POLR2A	chr16:75467171-75467985	K562	blood:	n/a	n/a
48	POLR2A	chr16:75466933-75467583	GM12891	blood:	n/a	n/a
49	POLR2A	chr16:75466761-75468284	K562	blood:	n/a	n/a
50	YY1	chr16:75466697-75468189	K562	blood:	n/a	chr16:75467351-75467365 chr16:75467338-75467347 chr16:75467338-75467352 chr16:75466961-75466975 chr16:75466958-75466967 chr16:75466961-75466970

No.	Distal block	Cell Line	Cell type
1	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
2	chr16:75467294..75467997-chr16:75498539..75499091,2	MCF-7	breast:
3	chr16:75440851..75444308-chr16:75465493..75468084,3	MCF-7	breast:
4	chr16:75467060..75468632-chr16:75654952..75657400,2	K562	blood:
5	chr16:66967901..66968593-chr16:75466894..75467429,2	Hela-S3	cervix:
6	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
7	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
8	chr16:75466440..75468341-chr16:75498328..75499164,5	MCF-7	breast:
9	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
10	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
11	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
12	chr1:147806696..147807392-chr16:75467009..75467821,2	Hela-S3	cervix:
13	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
14	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
15	chr16:75466841..75469026-chr16:75598696..75600730,2	MCF-7	breast:
16	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
17	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
18	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
19	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
20	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:
21	chr16:75467207..75468752-chr16:75656825..75658775,2	MCF-7	breast:

Variant related genes	Relation type
CFDP1	TF binding region
ENSG00000065457	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000252122	Chromatin interaction
ENSG00000166595	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000172831	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv32560	chr16:75465765-75471455	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv516019	chr16:75466696-75473332	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv521596	chr16:75466696-75486648	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75465400-75468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:75466000-75468600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:75466000-75468600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:75466000-75468600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:75466200-75468000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:75466200-75468000	Active TSS	NHEK	skin
7	chr16:75466200-75468200	Active TSS	Brain Germinal Matrix	brain
8	chr16:75466200-75468200	Active TSS	HMEC	breast
9	chr16:75466200-75468400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr16:75466200-75468400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:75466200-75468400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:75466200-75468600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:75466200-75468600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:75466200-75468600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:75466200-75468800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr16:75466200-75468800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:75466200-75468800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:75466200-75468800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr16:75466400-75467800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:75466400-75467800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr16:75466400-75468000	Active TSS	Primary T cells from cord blood	blood
22	chr16:75466400-75468000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr16:75466400-75468200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:75466400-75468200	Active TSS	Fetal Brain Female	brain
25	chr16:75466400-75468200	Active TSS	GM12878-XiMat	blood
26	chr16:75466400-75468400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:75466400-75468400	Active TSS	Brain Substantia Nigra	brain
28	chr16:75466400-75468400	Active TSS	Fetal Lung	lung
29	chr16:75466400-75468400	Active TSS	Osteobl	bone
30	chr16:75466400-75468600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:75466400-75468600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:75466400-75468600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:75466400-75468600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:75466400-75468600	Active TSS	Stomach Smooth Muscle	stomach
35	chr16:75466400-75468600	Active TSS	HSMMtube	muscle
36	chr16:75466400-75468600	Active TSS	NHDF-Ad	bronchial
37	chr16:75466400-75468800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr16:75466400-75468800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr16:75466400-75468800	Active TSS	Left Ventricle	heart
40	chr16:75466400-75468800	Active TSS	Ovary	ovary
41	chr16:75466400-75468800	Active TSS	Psoas Muscle	Psoas
42	chr16:75466400-75468800	Active TSS	HSMM	muscle
43	chr16:75466400-75469200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr16:75466600-75468000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr16:75466600-75468000	Active TSS	NH-A	brain
46	chr16:75466600-75468200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:75466600-75468200	Active TSS	Fetal Muscle Leg	muscle
48	chr16:75466600-75468200	Active TSS	NHLF	lung
49	chr16:75466600-75468400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:75466600-75468400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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